SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS372583676 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS372583830 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS372583903 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS372584501 DUOX2 Health Risk Pathogenic —
RS372585253 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS372585344 NEK1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, susceptibility to
RS372585782 AR Health Risk Conflicting classifications of pathogenicity Kennedy disease, Androgen resistance syndrome
RS372585819 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS372586694 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS372587440 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS372587744 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS372588069 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372588415 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEFH-related disorder
RS372588663 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS372592018 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS372592554 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS372593697 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372594520 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS372594770 CLTCL1 Health Risk Conflicting classifications of pathogenicity —
RS372595221 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Inborn genetic diseases
RS372595428 BRWD1 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS372596032 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS372596900 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS372597302 CDC20 Health Risk Pathogenic Oocyte maturation defect 14, Oocyte maturation defect 14
RS372597584 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Nephronophthisis 11
RS372597797 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS372597855 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS372598000 DOCK8 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Combined immunodeficiency due to DOCK8 deficiency
RS372598970 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS372599685 PROM1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 12, Retinitis pigmentosa
RS372600090 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS372601642 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype
RS372601814 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS372601826 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS372602369 ARHGDIA Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 8
RS372602506 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS372603233 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372603397 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS372603691 MAGT1 Health Risk Conflicting classifications of pathogenicity X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS372604935 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, GLDC-related disorder
RS372605816 TRPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Trichorhinophalangeal syndrome
RS372605834 SASS6 Health Risk Conflicting classifications of pathogenicity —
RS372606012 MED12 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus, FG syndrome 1
RS372606303 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS372606750 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS372606845 COL4A4 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Autosomal recessive Alport syndrome
RS372607453 RBM48 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS372608982 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS372609400 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS372609616 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Enhanced S-cone syndrome
RS372609682 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS372609836 POLE Health Risk Conflicting classifications of pathogenicity —
RS372610364 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS372611171 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372612147 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS372612816 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency
RS372613518 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS372614557 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS372615226 FASLG Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS372615343 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Cone-rod dystrophy 13
RS372617572 ATRX Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonic facies syndrome, X-linked
RS372617952 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372618689 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS372618781 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372619016 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS372619046 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS372619120 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS372620403 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS372620412 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS372620534 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Coffin-Siris syndrome
RS372620785 RPE65 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 2
RS372621124 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS372621219 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS372621575 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS372621686 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372621690 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS372622191 MED17 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS372622372 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372623270 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS372624602 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS372624833 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS372625322 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Ovarian cancer
RS372626992 SIN3A Health Risk Conflicting classifications of pathogenicity —
RS372627112 PNPT1 Health Risk Conflicting classifications of pathogenicity PNPT1-related disorder, PNPT1-related disorder
RS372627181 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS372628288 GMPPA Health Risk Pathogenic/Likely pathogenic GMPPA-related disorder, Alacrima
RS372628324 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS372628779 KANK1 Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS372628812 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS372629661 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS372629986 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS372630614 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS372631097 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16
RS372631124 CANT1 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS372631555 PIGV Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372631657 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS372632599 RNASEH2B Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS372633230 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS372633280 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372633654 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
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